A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10774968



Internal ID3132172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177606984..177608380hg38UCSC Ensembl
Innerchr2:177606986..177608378hg38UCSC Ensembl
Outerchr2:177606982..177608382hg38UCSC Ensembl
chr2:178471712..178473108hg19UCSC Ensembl
Innerchr2:178471714..178473106hg19UCSC Ensembl
Outerchr2:178471710..178473110hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg381397
hg191397
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593465
Supporting Variants
SamplesHG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10774968
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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