A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3569033



Internal ID6693729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237647664..237647726hg38UCSC Ensembl
chr2:238556307..238556369hg19UCSC Ensembl
chr2:238221046..238221108hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004389
Supporting Variants
SamplesHuRef
Known GenesLRRFIP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3569033
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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