A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738832



Internal ID10322468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:100009760..100010155hg38UCSC Ensembl
Outerchr9:102772042..102772437hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850488, essv6958477, essv6724072, essv6716319, essv6672430, essv6783063, essv6923856
SamplesSSM045, SSM018, SSM026, SSM031, SSM086, SSM068, SSM043
Known GenesERP44
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)esv2738832
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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