A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13224925



Internal ID3280582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73090886..73109132hg38UCSC Ensembl
Innerchr8:73090907..73109111hg38UCSC Ensembl
Outerchr8:73090865..73109153hg38UCSC Ensembl
chr8:74003121..74021367hg19UCSC Ensembl
Innerchr8:74003142..74021346hg19UCSC Ensembl
Outerchr8:74003100..74021388hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3818247
hg1918247
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617627
Supporting Variants
SamplesHG02891
Known GenesSBSPON
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13224925
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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