A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1297314



Internal ID12460436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86545110..86545227hg38UCSC Ensembl
chr2:86772233..86772350hg19UCSC Ensembl
chr2:86625744..86625861hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4148420
SamplesHuRef
Known GenesCHMP3, RNF103-CHMP3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1297314
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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