A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6697545



Internal ID10112015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37330870..37331500hg38UCSC Ensembl
Outerchr4:37332492..37333122hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38631
hg19631
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727425, esv2727422, esv2727417, esv2727420
Supporting Variants
SamplesSSM038
Known GenesKIAA1239
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)essv6697545
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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