A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716274



Internal ID9950562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111544837..111545192hg38UCSC Ensembl
Outerchr1:112087459..112087814hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6725936, essv6686222, essv6797537, essv6829088, essv6853365, essv6859290, essv6954880, essv6898682, essv6972509, essv6669094, essv6847155, essv6816693, essv6906186, essv6864063
SamplesSSM100, SSM046, SSM087, SSM088, SSM029, SSM026, SSM089, SSM035, SSM031, SSM014, SSM086, SSM081, SSM072, SSM078
Known GenesADORA3
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)esv2716274
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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