A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6794721



Internal ID9657231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:30404840..31346466hg38UCSC Ensembl
Outerchr6:30372617..31314243hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38941627
hg19941627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731791
Supporting Variants
SamplesSSM009
Known GenesABCF1, ATAT1, C6orf136, C6orf15, CCHCR1, CDSN, DDR1, DHX16, DPCR1, FLOT1, GNL1, GTF2H4, HCG22, HCG27, HLA-C, HLA-E, IER3, MDC1, MIR4640, MIR877, MRPS18B, MUC21, MUC22, NRM, POU5F1, PPP1R10, PPP1R18, PRR3, PSORS1C1, PSORS1C2, PSORS1C3, SFTA2, TCF19, TUBB, VARS2
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)essv6794721
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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