A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613723



Internal ID7000619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75565851..75567771hg38UCSC Ensembl
Innerchr7:75565851..75567771hg38UCSC Ensembl
Outerchr7:75565546..75568068hg38UCSC Ensembl
chr7:75195155..75197075hg19UCSC Ensembl
Innerchr7:75195155..75197075hg19UCSC Ensembl
Outerchr7:75194850..75197372hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381921
hg191921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12848008, essv12848004, essv12847954, essv12848024, essv12847979, essv12847962, essv12847999, essv12848018, essv12847981, essv12848011, essv12847990, essv12847934, essv12848027, essv12848002, essv12847958, essv12847936, essv12847971, essv12847995, essv12847937, essv12848015, essv12847960, essv12848026, essv12847988, essv12847998, essv12847959, essv12848023, essv12847982, essv12848000, essv12847991, essv12847985, essv12848022, essv12847996, essv12847993, essv12847969, essv12847983, essv12847964, essv12847968, essv12847956, essv12847970, essv12847957, essv12847997, essv12847939, essv12847978, essv12847941, essv12847992, essv12847989, essv12847965, essv12848005, essv12847944, essv12848009, essv12847974, essv12847966, essv12848025, essv12847942, essv12847948, essv12847946, essv12848010, essv12847932, essv12847980, essv12848007, essv12847947, essv12847976, essv12848020, essv12848019, essv12847967, essv12847931, essv12847955, essv12848001, essv12848012, essv12848017, essv12848003, essv12847953, essv12847950, essv12847938, essv12848014, essv12848006, essv12847943, essv12847963, essv12847949, essv12847994, essv12848013, essv12847933, essv12847951, essv12847984, essv12847945, essv12847935, essv12847972, essv12847952, essv12847975, essv12847973, essv12848016, essv12847940, essv12847987, essv12847986, essv12847961, essv12848021, essv12847977
SamplesHG01985, HG02339, NA19700, HG02583, NA19466, HG03300, NA19350, HG03130, HG03298, HG03280, NA18878, HG03100, HG03295, HG03515, HG03297, HG02589, NA19098, HG03069, HG03074, NA19201, HG02811, HG03099, HG03452, HG03499, NA20320, HG03091, HG03485, NA18916, NA20291, HG02922, HG02143, HG03520, HG03268, NA20812, NA19235, HG01308, NA19471, HG02588, HG03352, HG03380, HG02946, NA18864, NA20355, HG03073, NA18867, HG03048, HG03169, HG02879, HG02819, NA19908, HG03160, NA19707, NA18934, HG03088, HG02449, HG01882, HG02953, HG03159, HG02508, HG03294, HG03311, HG01102, HG03382, HG03136, HG02817, NA19031, NA18856, NA19113, NA18912, HG02881, HG03046, HG02585, NA19375, HG02455, NA19309, HG03437, HG02010, HG02983, HG02721, HG01915, NA19380, HG02982, HG01205, NA19324, NA19467, HG03066, HG03279, HG02938, NA19096, HG03401, NA19900, HG02805, NA18522, HG03303, HG03129, NA19431, HG03196
Known GenesHIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613723
Frequency
Sample Size2504
Observed Gain0
Observed Loss97
Observed Complex0
Frequencyn/a


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