A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10538273



Internal ID4427952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71368325..71431327hg38UCSC Ensembl
chr2:71595455..71658457hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3863003
hg1963003
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591228
Supporting Variants
SamplesHG03941
Known GenesZNF638
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10538273
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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