A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736283



Internal ID10319919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1603091..1603786hg38UCSC Ensembl
Outerchr8:1551257..1551952hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952525, essv6897158, essv6782811, essv6923613, essv6811737, essv6904283, essv6733166, essv6771395, essv6856093, essv6680954, essv6884633, essv6834297, essv6775098, essv6894041, essv6876157
SamplesSSM065, SSM087, SSM013, SSM092, SSM018, SSM033, SSM066, SSM068, SSM082, SSM007, SSM076, SSM095, SSM025, SSM099, SSM098
Known GenesDLGAP2, LOC100507435
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)esv2736283
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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