A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5183396



Internal ID7928445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:114312845..114314514hg38UCSC Ensembl
Outerchr7:113952900..113954569hg19UCSC Ensembl
Outerchr7:113740136..113741805hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg381670
hg191670
hg181670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2606618
Supporting Variants
SamplesNA18507
Known GenesFOXP2
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)essv5183396
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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