A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2556506



Internal ID1587046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:107772359..107773867hg38UCSC Ensembl
Outerchr7:107412804..107414312hg19UCSC Ensembl
Outerchr7:107200040..107201548hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg381509
hg191509
hg181509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5211466
SamplesNA18507
Known GenesSLC26A3
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)esv2556506
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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