A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594253



Internal ID6981573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214124215..214129140hg38UCSC Ensembl
Innerchr2:214124216..214129140hg38UCSC Ensembl
Outerchr2:214124215..214129141hg38UCSC Ensembl
chr2:214988939..214993864hg19UCSC Ensembl
Innerchr2:214988940..214993864hg19UCSC Ensembl
Outerchr2:214988939..214993865hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg384926
hg194926
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10841685, essv10841682, essv10841703, essv10841700, essv10841710, essv10841689, essv10841715, essv10841694, essv10841714, essv10841698, essv10841701, essv10841690, essv10841687, essv10841691, essv10841695, essv10841713, essv10841706, essv10841708, essv10841711, essv10841692, essv10841704, essv10841688, essv10841707, essv10841699, essv10841693, essv10841683, essv10841696, essv10841684, essv10841702, essv10841717, essv10841709, essv10841705, essv10841716, essv10841686, essv10841712, essv10841681, essv10841697
SamplesHG01412, HG01173, HG01443, HG02275, HG01066, HG01486, HG00641, HG01945, HG01455, NA19651, HG02003, HG01284, HG01550, HG01248, HG01162, NA19717, NA20314, NA19663, HG01498, HG01941, HG01049, HG01447, HG01497, HG01954, NA19732, HG01357, HG01375, HG01951, HG01494, HG01974, NA19786, HG01137, NA19759, HG02348, HG01920, HG01927, HG01976
Known GenesSPAG16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594253
Frequency
Sample Size2504
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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