A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5365012



Internal ID8456747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:42509689..42511304hg38UCSC Ensembl
Outerchr7:42549288..42550903hg19UCSC Ensembl
Outerchr7:42515813..42517428hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381616
hg191616
hg181616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2591598
Supporting Variants
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)essv5365012
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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