A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716232



Internal ID9950520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:74732837..74733437hg38UCSC Ensembl
Outerchr17:72728976..72729576hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6928543, essv6792614, essv6945777, essv6966972, essv6710085, essv6839354, essv6725214, essv6852330, essv6729015, essv6949852, essv6692208
SamplesSSM036, SSM083, SSM027, SSM024, SSM045, SSM046, SSM041, SSM023, SSM019, SSM086, SSM070
Known GenesRAB37
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)esv2716232
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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