A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5262444



Internal ID8007493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136992037..136993515hg38UCSC Ensembl
Outerchr6:137313174..137314652hg19UCSC Ensembl
Outerchr6:137354867..137356345hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381479
hg191479
hg181479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2583111
Supporting Variants
SamplesNA18507
Known GenesNHEG1
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)essv5262444
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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