A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540130



Internal ID18741206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:90527870..90528173hg38UCSC Ensembl
Outerchr6:90527817..90528215hg38UCSC Ensembl
Innerchr6:91237589..91237892hg19UCSC Ensembl
Outerchr6:91237536..91237934hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9738877
Samples
Known GenesMAP3K7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540130
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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