A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738188



Internal ID10321824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:8864975..8872634hg38UCSC Ensembl
Outerchr9:8864975..8872634hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg387660
hg197660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6716258, essv6944330, essv6841953, essv6931269, essv6727826, essv6861464, essv6870360, essv6894193, essv6934652, essv6698413, essv6919628, essv6672297
SamplesSSM046, SSM011, SSM038, SSM023, SSM084, SSM090, SSM017, SSM003, SSM031, SSM020, SSM043, SSM098
Known GenesPTPRD
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)esv2738188
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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