A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4148420



Internal ID11430958
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1297314
Supporting Variants
SamplesHuRef
Known GenesCHMP3, RNF103-CHMP3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4148420
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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