A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585106



Internal ID6625424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6378100..6385837hg38UCSC Ensembl
Innerchr1:6378101..6385837hg38UCSC Ensembl
Outerchr1:6378100..6385838hg38UCSC Ensembl
chr1:6438160..6445897hg19UCSC Ensembl
Innerchr1:6438161..6445897hg19UCSC Ensembl
Outerchr1:6438160..6445898hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg387738
hg197738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9845946, essv9845926, essv9845927, essv9845948, essv9845929, essv9845923, essv9845936, essv9845947, essv9845920, essv9845944, essv9845941, essv9845934, essv9845938, essv9845945, essv9845937, essv9845924, essv9845919, essv9845932, essv9845940, essv9845928, essv9845935, essv9845939, essv9845942, essv9845933, essv9845943, essv9845925, essv9845921, essv9845930, essv9845922, essv9845931
SamplesNA12342, HG02681, HG02660, HG01344, HG03967, NA12044, NA19914, HG00371, HG01140, HG00096, NA20504, HG03007, HG03864, HG03731, HG00159, NA12046, HG01516, HG03922, HG00325, HG00176, NA18558, NA12872, HG00246, HG01509, HG00138, NA20870, NA12760, HG00345, HG00126, HG03625
Known GenesACOT7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585106
Frequency
Sample Size2504
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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