A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733601



Internal ID10317237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170255551..170256126hg38UCSC Ensembl
Outerchr6:170564639..170565214hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38576
hg19576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690638, essv6919020, essv6849389, essv6911517, essv6841418, essv6889454
SamplesSSM036, SSM084, SSM017, SSM086, SSM015, SSM012
Known GenesLOC154449
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)esv2733601
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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