A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715604



Internal ID10299240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7852171..7852838hg38UCSC Ensembl
Outerchr17:7755489..7756156hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38668
hg19668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920894, essv6706789, essv6803952, essv6777744, essv6717463, essv6776322, essv6953954, essv6901904, essv6665760, essv6824274, essv6696247, essv6932580, essv6678484, essv6971521
SamplesSSM008, SSM079, SSM073, SSM028, SSM029, SSM017, SSM032, SSM066, SSM040, SSM020, SSM037, SSM025, SSM043, SSM012
Known GenesKDM6B
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)esv2715604
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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