A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857295



Internal ID10255049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103899676..103899942hg38UCSC Ensembl
Outerchr12:104293454..104293720hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746299
Supporting Variants
SamplesSSM087
Known GenesGNN
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6857295
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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