A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10640845



Internal ID642661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118946648..118947923hg38UCSC Ensembl
Innerchr2:118946667..118947905hg38UCSC Ensembl
Outerchr2:118946630..118947942hg38UCSC Ensembl
chr2:119704224..119705499hg19UCSC Ensembl
Innerchr2:119704243..119705481hg19UCSC Ensembl
Outerchr2:119704206..119705518hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381276
hg191276
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592163
Supporting Variants
SamplesHG02323
Known GenesMARCO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10640845
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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