A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672562



Internal ID9591981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:62157294..62158800hg38UCSC Ensembl
Outerchr1:62156923..62159170hg38UCSC Ensembl
Innerchr1:62622966..62624472hg19UCSC Ensembl
Outerchr1:62622595..62624842hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382248
hg192248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5630120, essv5477929, essv5885654, essv5877065, essv6378227, essv5942314, essv5716765, essv6559410, essv6477785, essv5701069, essv6571895, essv6281778, essv5834883, essv5448084, essv5734710, essv6212827, essv5538661
SamplesHG01357, HG01441, HG01440, HG01250, HG01365, HG01492, HG01491, HG01461, HG01384, HG01375, HG01437, HG01465, HG01455, HG01137, HG01366, HG01489, HG01377
Known GenesINADL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672562
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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