A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738816



Internal ID10322452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:97998767..97999106hg38UCSC Ensembl
Outerchr9:100761049..100761388hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672426, essv6809047, essv6701974, essv6746506, essv6958471, essv6684714, essv6787294, essv6677381, essv6799759, essv6894267, essv6976291, essv6691216, essv6939880
SamplesSSM036, SSM075, SSM039, SSM069, SSM029, SSM026, SSM032, SSM031, SSM072, SSM022, SSM055, SSM034, SSM098
Known GenesANP32B
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)esv2738816
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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