A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10152149



Internal ID153965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155047853..155175013hg38UCSC Ensembl
Innerchr1:155048003..155174863hg38UCSC Ensembl
Outerchr1:155047703..155175163hg38UCSC Ensembl
chr1:155020329..155147489hg19UCSC Ensembl
Innerchr1:155020479..155147339hg19UCSC Ensembl
Outerchr1:155020179..155147639hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38127161
hg19127161
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587615
Supporting Variants
SamplesHG00310
Known GenesADAM15, DCST1, DPM3, EFNA1, EFNA3, EFNA4, KRTCAP2, LOC100505666, SLC50A1, TRIM46
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10152149
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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