A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11803479



Internal ID1805295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7477375..7479601hg38UCSC Ensembl
Innerchr5:7477407..7479570hg38UCSC Ensembl
Outerchr5:7477344..7479633hg38UCSC Ensembl
chr5:7477488..7479714hg19UCSC Ensembl
Innerchr5:7477520..7479683hg19UCSC Ensembl
Outerchr5:7477457..7479746hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg382227
hg192227
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603933
Supporting Variants
SamplesHG00150
Known GenesADCY2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11803479
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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