A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9865183



Internal ID1927452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16424708..16428684hg38UCSC Ensembl
Innerchr1:16424715..16428678hg38UCSC Ensembl
Outerchr1:16424702..16428691hg38UCSC Ensembl
chr1:16751203..16755179hg19UCSC Ensembl
Innerchr1:16751210..16755173hg19UCSC Ensembl
Outerchr1:16751197..16755186hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg383977
hg193977
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585338
Supporting Variants
SamplesHG01799
Known GenesSPATA21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9865183
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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