A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5187638



Internal ID7932687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76705457..76706998hg38UCSC Ensembl
Outerchr17:74701539..74703080hg19UCSC Ensembl
Outerchr17:72213134..72214675hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381542
hg191542
hg181542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2426649
Supporting Variants
SamplesNA18507
Known GenesMXRA7
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)essv5187638
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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