A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592004



Internal ID6979331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112287729..112289455hg38UCSC Ensembl
Innerchr2:112287768..112289417hg38UCSC Ensembl
Outerchr2:112287691..112289494hg38UCSC Ensembl
chr2:113045306..113047032hg19UCSC Ensembl
Innerchr2:113045345..113046994hg19UCSC Ensembl
Outerchr2:113045268..113047071hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381727
hg191727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10628708, essv10628723, essv10628707, essv10628710, essv10628709, essv10628715, essv10628719, essv10628727, essv10628718, essv10628725, essv10628716, essv10628714, essv10628722, essv10628729, essv10628712, essv10628721, essv10628717, essv10628724, essv10628713, essv10628720, essv10628726, essv10628728, essv10628706, essv10628730, essv10628711
SamplesNA19394, HG03300, NA19377, HG03105, HG02816, NA19041, HG03045, HG03352, HG03225, NA19456, NA19445, HG03343, NA19403, HG02449, NA19327, HG03027, HG02817, HG02586, HG02613, HG02807, NA19390, NA20351, NA19121, NA19430, HG02855
Known GenesZC3H6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592004
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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