A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2427806



Internal ID8491365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:95635074..95636150hg38UCSC Ensembl
Outerchr7:95264386..95265462hg19UCSC Ensembl
Outerchr7:95102322..95103398hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38140
hg19140
hg18140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5357750
SamplesNA18507
Known Genes
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)esv2427806
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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