A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990009



Internal ID7061252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:34081991..34089877hg38UCSC Ensembl
Outerchr6:34049768..34057654hg19UCSC Ensembl
Outerchr6:34157746..34165632hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg387887
hg197887
hg187887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564924
SamplesHuRef
Known GenesGRM4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990009
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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