A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615304



Internal ID7002193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143419707..143420578hg38UCSC Ensembl
Innerchr7:143419729..143420557hg38UCSC Ensembl
Outerchr7:143419686..143420600hg38UCSC Ensembl
chr7:143116800..143117671hg19UCSC Ensembl
Innerchr7:143116822..143117650hg19UCSC Ensembl
Outerchr7:143116779..143117693hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38872
hg19872
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12992309
SamplesHG01345
Known GenesEPHA1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615304
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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