A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9894611



Internal ID6519905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28155229..28157546hg38UCSC Ensembl
Innerchr1:28155250..28157526hg38UCSC Ensembl
Outerchr1:28155209..28157567hg38UCSC Ensembl
chr1:28481740..28484057hg19UCSC Ensembl
Innerchr1:28481761..28484037hg19UCSC Ensembl
Outerchr1:28481720..28484078hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg382318
hg192318
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585574
Supporting Variants
SamplesHG02002
Known GenesPTAFR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9894611
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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