A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599542



Internal ID6639806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8210662..8212400hg38UCSC Ensembl
Innerchr4:8210662..8212400hg38UCSC Ensembl
Outerchr4:8210334..8212632hg38UCSC Ensembl
chr4:8212389..8214127hg19UCSC Ensembl
Innerchr4:8212389..8214127hg19UCSC Ensembl
Outerchr4:8212061..8214359hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381739
hg191739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11337960, essv11337967, essv11337971, essv11337952, essv11337969, essv11337957, essv11337968, essv11337959, essv11337966, essv11337958, essv11337949, essv11337970, essv11337950, essv11337951, essv11337953, essv11337972, essv11337947, essv11337963, essv11337948, essv11337954, essv11337964, essv11337946, essv11337956, essv11337962, essv11337965, essv11337961, essv11337955
SamplesHG03567, NA19404, NA18523, HG03437, NA19093, NA18511, HG03432, NA19472, HG03457, NA20340, HG02870, NA19028, NA19020, HG03578, HG02851, HG03079, NA19395, NA19393, NA19713, HG02971, NA19328, NA19711, NA19462, NA19391, NA19399, NA19204, NA19473
Known GenesSH3TC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599542
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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