A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3690427



Internal ID12071443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2876497..2876644hg38UCSC Ensembl
chr18:2876495..2876642hg19UCSC Ensembl
chr18:2866495..2866642hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38148
hg19148
hg18148
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1259581
Supporting Variants
SamplesHuRef
Known GenesEMILIN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3690427
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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