A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617420



Internal ID7004305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:62991899..62992834hg38UCSC Ensembl
Innerchr8:62991900..62992833hg38UCSC Ensembl
Outerchr8:62991898..62992835hg38UCSC Ensembl
chr8:63904458..63905393hg19UCSC Ensembl
Innerchr8:63904459..63905392hg19UCSC Ensembl
Outerchr8:63904457..63905394hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38936
hg19936
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13212920, essv13212921, essv13212925, essv13212917, essv13212914, essv13212929, essv13212911, essv13212922, essv13212918, essv13212919, essv13212913, essv13212927, essv13212930, essv13212924, essv13212910, essv13212916, essv13212931, essv13212928, essv13212915, essv13212923, essv13212926, essv13212912
SamplesNA19355, HG03455, NA19443, HG02541, NA18923, NA19038, HG03209, HG03556, HG03189, NA20340, HG01440, NA19159, HG03136, HG02557, HG02814, HG02970, NA19472, NA19185, NA19116, HG02861, HG02851, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617420
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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