A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10433256



Internal ID435072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26089688..26093525hg38UCSC Ensembl
Innerchr2:26089688..26093525hg38UCSC Ensembl
Outerchr2:26089595..26093686hg38UCSC Ensembl
chr2:26312557..26316394hg19UCSC Ensembl
Innerchr2:26312557..26316394hg19UCSC Ensembl
Outerchr2:26312464..26316555hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383838
hg193838
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590109
Supporting Variants
SamplesHG04189
Known GenesRAB10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10433256
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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