A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2481557



Internal ID1512097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:129414996..129416532hg38UCSC Ensembl
Outerchr6:129736141..129737677hg19UCSC Ensembl
Outerchr6:129777834..129779370hg18UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg381537
hg191537
hg181537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5323805
SamplesNA18507
Known GenesLAMA2
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)esv2481557
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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