A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10828681



Internal ID1114991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206065229..206070474hg38UCSC Ensembl
Innerchr2:206065379..206070324hg38UCSC Ensembl
Outerchr2:206065079..206070624hg38UCSC Ensembl
chr2:206929953..206935198hg19UCSC Ensembl
Innerchr2:206930103..206935048hg19UCSC Ensembl
Outerchr2:206929803..206935348hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg385246
hg195246
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594060
Supporting Variants
SamplesHG00740
Known GenesINO80D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10828681
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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