A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10538162



Internal ID3824070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71115410..71120756hg38UCSC Ensembl
Innerchr2:71115411..71120756hg38UCSC Ensembl
Outerchr2:71115410..71120757hg38UCSC Ensembl
chr2:71342540..71347886hg19UCSC Ensembl
Innerchr2:71342541..71347886hg19UCSC Ensembl
Outerchr2:71342540..71347887hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385347
hg195347
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591223
Supporting Variants
SamplesHG03461
Known GenesMCEE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10538162
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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