A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591316



Internal ID6978644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:76189849..76191575hg38UCSC Ensembl
Innerchr2:76189853..76191571hg38UCSC Ensembl
Outerchr2:76189845..76191579hg38UCSC Ensembl
chr2:76416975..76418701hg19UCSC Ensembl
Innerchr2:76416979..76418697hg19UCSC Ensembl
Outerchr2:76416971..76418705hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg381727
hg191727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10545596, essv10545595, essv10545594
SamplesHG03556, HG03085, NA19248
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591316
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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