A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692032



Internal ID14684407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16543070..16676368hg38UCSC Ensembl
Innerchr1:16544070..16675368hg38UCSC Ensembl
Outerchr1:16542070..16677368hg38UCSC Ensembl
chr1:16869565..17002863hg19UCSC Ensembl
Innerchr1:16870565..17001863hg19UCSC Ensembl
Outerchr1:16868565..17003863hg19UCSC Ensembl
chr1:16742152..16875450hg18UCSC Ensembl
Innerchr1:16743152..16874450hg18UCSC Ensembl
Outerchr1:16741152..16876450hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38133299
hg19133299
hg18133299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3442238
Supporting Variants
SamplesNA19238
Known GenesCROCCP2, LOC729574, MIR3675, MST1P2, NBPF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692032
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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