A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593887



Internal ID6981209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196403858..196408816hg38UCSC Ensembl
Innerchr2:196404008..196408666hg38UCSC Ensembl
Outerchr2:196403708..196408966hg38UCSC Ensembl
chr2:197268582..197273540hg19UCSC Ensembl
Innerchr2:197268732..197273390hg19UCSC Ensembl
Outerchr2:197268432..197273690hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg384959
hg194959
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10815390
SamplesHG01624
Known GenesHECW2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593887
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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