A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2647176



Internal ID8364049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88764283..88765884hg38UCSC Ensembl
Outerchr4:89685434..89687035hg19UCSC Ensembl
Outerchr4:89904457..89906058hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg381602
hg191602
hg181602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5329197
SamplesNA18507
Known GenesFAM13A
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)esv2647176
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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