A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5171409



Internal ID8263144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:24637811..24639426hg38UCSC Ensembl
Outerchr7:24677430..24679045hg19UCSC Ensembl
Outerchr7:24643955..24645570hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381616
hg191616
hg181616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2434979
Supporting Variants
SamplesNA18507
Known GenesMPP6
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)essv5171409
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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