A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731447



Internal ID10315083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1897740..1898416hg38UCSC Ensembl
Outerchr6:1897974..1898650hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38677
hg19677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825109, essv6670975, essv6896686, essv6715402, essv6786282, essv6826281, essv6963566, essv6690329, essv6956839, essv6723131, essv6730777, essv6770691, essv6697847, essv6745874
SamplesSSM036, SSM027, SSM045, SSM065, SSM038, SSM047, SSM069, SSM026, SSM031, SSM080, SSM010, SSM055, SSM099, SSM043
Known GenesGMDS
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)esv2731447
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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