A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5246515



Internal ID7991564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:44254566..44254894hg38UCSC Ensembl
Outerchr7:44294165..44294493hg19UCSC Ensembl
Outerchr7:44260690..44261018hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38900
hg19900
hg18900
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2629662
Supporting Variants
SamplesNA18507
Known GenesCAMK2B
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)essv5246515
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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