A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10332905



Internal ID2152393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235621916..235627283hg38UCSC Ensembl
Innerchr1:235621916..235627283hg38UCSC Ensembl
Outerchr1:235621416..235627783hg38UCSC Ensembl
chr1:235785216..235790583hg19UCSC Ensembl
Innerchr1:235785216..235790583hg19UCSC Ensembl
Outerchr1:235784716..235791083hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg385368
hg195368
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589198
Supporting Variants
SamplesHG01948
Known GenesGNG4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10332905
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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