A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734261



Internal ID9968588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:36939131..36939932hg38UCSC Ensembl
Outerchr7:36978736..36979537hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6790756, essv6834001, essv6701345, essv6774800, essv6671477, essv6975220, essv6935014, essv6727349, essv6719654
SamplesSSM046, SSM039, SSM021, SSM029, SSM031, SSM044, SSM066, SSM082, SSM070
Known GenesELMO1
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)esv2734261
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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