A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4185967



Internal ID11121819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61924930..61925279hg38UCSC Ensembl
chr1:62390602..62390951hg19UCSC Ensembl
chr1:62163190..62163539hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38350
hg19350
hg18350
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1040191
Supporting Variants
SamplesHuRef
Known GenesINADL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4185967
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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