A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10441172



Internal ID2767109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29789595..29794367hg38UCSC Ensembl
Innerchr2:29789595..29794367hg38UCSC Ensembl
Outerchr2:29789436..29794525hg38UCSC Ensembl
chr2:30012461..30017233hg19UCSC Ensembl
Innerchr2:30012461..30017233hg19UCSC Ensembl
Outerchr2:30012302..30017391hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg384773
hg194773
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590191
Supporting Variants
SamplesHG02439
Known GenesALK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10441172
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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