A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10840744



Internal ID3662167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213197516..213204848hg38UCSC Ensembl
Innerchr2:213197516..213204848hg38UCSC Ensembl
Outerchr2:213197284..213205068hg38UCSC Ensembl
chr2:214062240..214069572hg19UCSC Ensembl
Innerchr2:214062240..214069572hg19UCSC Ensembl
Outerchr2:214062008..214069792hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg387333
hg197333
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594227
Supporting Variants
SamplesHG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10840744
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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