A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9929205



Internal ID2631186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51449473..51451783hg38UCSC Ensembl
Innerchr1:51449474..51451783hg38UCSC Ensembl
Outerchr1:51449473..51451784hg38UCSC Ensembl
chr1:51915145..51917455hg19UCSC Ensembl
Innerchr1:51915146..51917455hg19UCSC Ensembl
Outerchr1:51915145..51917456hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382311
hg19n/a
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586035
Supporting Variants
SamplesHG02325
Known GenesEPS15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9929205
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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