A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593465



Internal ID6980789
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10774967, essv10774968, essv10774966, essv10774970, essv10774971, essv10774972, essv10774969
SamplesHG02610, HG02836, NA18917, HG02621, HG03073, HG03025, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593465
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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