A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591214



Internal ID6978542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70937113..70938408hg38UCSC Ensembl
Innerchr2:70937114..70938407hg38UCSC Ensembl
Outerchr2:70937112..70938409hg38UCSC Ensembl
chr2:71164243..71165538hg19UCSC Ensembl
Innerchr2:71164244..71165537hg19UCSC Ensembl
Outerchr2:71164242..71165539hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381296
hg191296
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10537935, essv10537944, essv10537943, essv10537932, essv10537934, essv10537941, essv10537945, essv10537931, essv10537936, essv10537933, essv10537939, essv10537946, essv10537940, essv10537947, essv10537937, essv10537942, essv10537938
SamplesHG03652, HG02691, HG04001, HG03817, HG03888, HG04238, NA20884, HG04029, HG03007, HG04195, HG03928, HG03974, HG03934, HG03866, NA20902, HG03955, NA21120
Known GenesATP6V1B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591214
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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