A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715916



Internal ID10299552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41140087..41149684hg38UCSC Ensembl
Outerchr17:39296339..39305936hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg389598
hg199598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6812706, essv6743488, essv6824306, essv6877185, essv6816030, essv6835535, essv6895259, essv6696286, essv6949805, essv6796746, essv6839520, essv6901124, essv6888544, essv6905550, essv6721357
SamplesSSM100, SSM071, SSM024, SSM079, SSM013, SSM092, SSM096, SSM044, SSM082, SSM007, SSM037, SSM077, SSM076, SSM010, SSM098
Known GenesKRTAP4-5, KRTAP4-6
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)esv2715916
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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