A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731925



Internal ID10315561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:36710625..36710705hg38UCSC Ensembl
Outerchr6:36678402..36678482hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1001e201
Supporting Variantsessv6957008, essv6849132
SamplesSSM026, SSM086
Known GenesRAB44
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)esv2731925
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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