A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2597296



Internal ID8314169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40495666..40497291hg38UCSC Ensembl
Outerchr1:40961338..40962963hg19UCSC Ensembl
Outerchr1:40733925..40735550hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381626
hg191626
hg181626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5267691
SamplesNA18507
Known GenesZFP69
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)esv2597296
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer