A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715813



Internal ID9950100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30601472..31009462hg38UCSC Ensembl
Outerchr17:28928490..29336480hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38407991
hg19407991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682213, essv6665807, essv6763802, essv6668541, essv6760820, essv6976672, essv6898115, essv6784283, essv6756053, essv6885523, essv6971548, essv6800956, essv6846464, essv6928501, essv6924987, essv6874148, essv6898114, essv6976661, essv6916767, essv6945721, essv6717491, essv6912619, essv6747294
SamplesSSM055, SSM091, SSM033, SSM099, SSM043, SSM072, SSM016, SSM001, SSM062, SSM085, SSM028, SSM029, SSM095, SSM030, SSM002, SSM019, SSM023, SSM068, SSM004, SSM018, SSM058
Known GenesADAP2, ATAD5, CRLF3, DPRXP4, LRRC37BP1, RNF135, SH3GL1P2, SUZ12P1, TEFM
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)esv2715813
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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