A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594480



Internal ID6634756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224871232..224872905hg38UCSC Ensembl
Innerchr2:224871246..224872891hg38UCSC Ensembl
Outerchr2:224871218..224872919hg38UCSC Ensembl
chr2:225735949..225737622hg19UCSC Ensembl
Innerchr2:225735963..225737608hg19UCSC Ensembl
Outerchr2:225735935..225737636hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg381674
hg191674
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10867439, essv10867437, essv10867438
SamplesHG01134, HG03836, HG00158
Known GenesDOCK10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594480
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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