A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5238105



Internal ID7983154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:104773515..104775112hg38UCSC Ensembl
Outerchr6:105221390..105222987hg19UCSC Ensembl
Outerchr6:105328083..105329680hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg381598
hg191598
hg181598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2518204
Supporting Variants
SamplesNA18507
Known GenesHACE1
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5238105
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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