A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6721397



Internal ID9783584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75802935..75803112hg38UCSC Ensembl
Outerchr17:73799016..73799193hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716247, esv2716246
Supporting Variants
SamplesSSM044
Known GenesUNK
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)essv6721397
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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