A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10788746



Internal ID2330029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182843521..182849111hg38UCSC Ensembl
Innerchr2:182843538..182849095hg38UCSC Ensembl
Outerchr2:182843505..182849128hg38UCSC Ensembl
chr2:183708249..183713839hg19UCSC Ensembl
Innerchr2:183708266..183713823hg19UCSC Ensembl
Outerchr2:183708233..183713856hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg385591
hg195591
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593574
Supporting Variants
SamplesHG02073
Known GenesFRZB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10788746
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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