A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10876865



Internal ID878681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232381449..232416439hg38UCSC Ensembl
chr2:233246159..233281149hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3834991
hg1934991
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594648
Supporting Variants
SamplesNA21095
Known GenesALPP, ALPPL2, ECEL1P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10876865
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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