A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004389



Internal ID6716513
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3569033
SamplesHuRef
Known GenesLRRFIP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004389
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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