A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608305



Internal ID6995235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:21163841..21164553hg38UCSC Ensembl
Innerchr6:21164091..21164503hg38UCSC Ensembl
Outerchr6:21163669..21164725hg38UCSC Ensembl
chr6:21164072..21164784hg19UCSC Ensembl
Innerchr6:21164322..21164734hg19UCSC Ensembl
Outerchr6:21163900..21164956hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12220152, essv12220162, essv12220155, essv12220148, essv12220171, essv12220156, essv12220172, essv12220149, essv12220147, essv12220161, essv12220153, essv12220163, essv12220165, essv12220150, essv12220164, essv12220157, essv12220166, essv12220160, essv12220167, essv12220170, essv12220169, essv12220158, essv12220159, essv12220154, essv12220146, essv12220168, essv12220151
SamplesHG02574, NA19222, HG03163, HG03521, HG03280, NA19107, HG03370, HG03342, HG03040, NA19725, NA18520, HG03114, HG03061, HG02309, HG03571, HG02256, HG02455, NA18517, HG02837, HG03259, NA20289, NA19096, HG03470, HG03401, HG02947, NA18488, HG03198
Known GenesCDKAL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608305
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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