A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10663641



Internal ID665457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127238110..127262002hg38UCSC Ensembl
chr2:127995686..128019578hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3823893
hg1923893
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592356
Supporting Variants
SamplesHG03040
Known GenesERCC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10663641
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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