A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738812



Internal ID10322448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:96300243..96300629hg38UCSC Ensembl
Outerchr9:99062525..99062911hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6970289, essv6720269, essv6908423, essv6904500, essv6873366, essv6672425, essv6866577, essv6965047, essv6882010, essv6952757, essv6783059, essv6775299, essv6856493, essv6900313, essv6931343, essv6701973, essv6687930, essv6795573, essv6727903, essv6771619, essv6967784, essv6870417, essv6731668, essv6779015, essv6890896, essv6850481, essv6897326, essv6838207, essv6976289, essv6819152, essv6830899, essv6831675, essv6767943, essv6737567, essv6927536, essv6862187, essv6823201, essv6746505
SamplesSSM100, SSM008, SSM083, SSM071, SSM027, SSM046, SSM011, SSM079, SSM065, SSM087, SSM097, SSM039, SSM013, SSM050, SSM028, SSM090, SSM047, SSM029, SSM089, SSM019, SSM035, SSM094, SSM031, SSM067, SSM044, SSM014, SSM086, SSM066, SSM068, SSM081, SSM020, SSM078, SSM010, SSM091, SSM055, SSM025, SSM004, SSM099
Known GenesHSD17B3
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)esv2738812
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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