A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730384



Internal ID9964700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1617035..1617481hg38UCSC Ensembl
Outerchr10:1659230..1659676hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38447
hg19447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6731747, essv6775369, essv6887718, essv6712682, essv6838279, essv6931436, essv6948681, essv6842088, essv6931435, essv6834571, essv6958631, essv6712681, essv6799842, essv6834570, essv6727971, essv6695145
SamplesSSM083, SSM024, SSM046, SSM042, SSM084, SSM047, SSM096, SSM026, SSM066, SSM072, SSM082, SSM020, SSM037
Known GenesADARB2
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)esv2730384
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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