A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3562438



Internal ID18416828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:56776989..56777240hg38UCSC Ensembl
Outerchr1:56776922..56777299hg38UCSC Ensembl
Innerchr1:57242662..57242913hg19UCSC Ensembl
Outerchr1:57242595..57242972hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9761185
Samples
Known GenesC1orf168
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3562438
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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