A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738432



Internal ID10322068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:37053920..37100463hg38UCSC Ensembl
Outerchr9:37053917..37100460hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg3846544
hg1946544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734732, essv6787236, essv6734871, essv6768133, essv6783013, essv6677330, essv6801909, essv6905362, essv6791344, essv6939825, essv6737536, essv6691487, essv6944363, essv6856423, essv6771579, essv6716281, essv6850405, essv6894710, essv6890853, essv6720228, essv6809002, essv6698428
SamplesSSM075, SSM064, SSM065, SSM087, SSM038, SSM097, SSM009, SSM050, SSM002, SSM023, SSM069, SSM032, SSM044, SSM001, SSM086, SSM068, SSM007, SSM022, SSM070, SSM043, SSM049, SSM012
Known GenesLOC100506710
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)esv2738432
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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