A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591237



Internal ID6978565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72021790..72049707hg38UCSC Ensembl
Innerchr2:72021790..72049707hg38UCSC Ensembl
Outerchr2:72021290..72050207hg38UCSC Ensembl
chr2:72248920..72276837hg19UCSC Ensembl
Innerchr2:72248920..72276837hg19UCSC Ensembl
Outerchr2:72248420..72277337hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3827918
hg1927918
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10540261, essv10540254, essv10540258, essv10540263, essv10540262, essv10540255, essv10540260, essv10540256, essv10540259, essv10540257
SamplesHG02156, HG00610, HG01046, HG02138, HG02397, HG00684, NA18591, HG02181, HG01028, HG01807
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591237
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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