A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2653994



Internal ID8370866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:13674964..13677090hg38UCSC Ensembl
Outerchr10:13716964..13719090hg19UCSC Ensembl
Outerchr10:13756970..13759096hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382127
hg192127
hg182127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5313324
SamplesNA18507
Known GenesFRMD4A
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)esv2653994
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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