A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6673629



Internal ID9743207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:52559523..52564928hg38UCSC Ensembl
Outerchr14:53026241..53031646hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg385406
hg195406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748718
Supporting Variants
SamplesSSM031
Known GenesGPR137C
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)essv6673629
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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