A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5170751



Internal ID7915800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69891821..69893647hg38UCSC Ensembl
Outerchr1:70357504..70359330hg19UCSC Ensembl
Outerchr1:70130092..70131918hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381827
hg191827
hg181827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2617051
Supporting Variants
SamplesNA18507
Known GenesLRRC7
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)essv5170751
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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