A curated catalogue of human genomic structural variation




Variant Details

Variant: esv988069



Internal ID6724043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:36974523..36983291hg38UCSC Ensembl
Outerchr6:36942299..36951067hg19UCSC Ensembl
Outerchr6:37050277..37059045hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg388769
hg198769
hg188769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564767
SamplesHuRef
Known GenesMTCH1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv988069
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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